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2022-12-14T03:49:09Z
461:462
STAT3 gene mutations and their association with pure red cell aplasia in large granular lymphocyte leukemia
Ishida, Fumihiro
Matsuda, Kazuyuki
Sekiguchi, Nodoka
Makishima, Hideki
Taira, Chiaki
Momose, Kayoko
Nishina, Sayaka
Senoo, Noriko
Sakai, Hitoshi
Ito, Toshiro
Kwong, Yok-Lam
Copyright© 2013 The Authors. Cancer Science published by Wiley Publishing Asia Pty Ltd on behalf of Japanese Cancer Association.
Cytotoxic T cell
large granular lymphocyte leukemia
natural killer cell
pure red cell aplasia
STAT3
Large granular lymphocyte leukemia (LGLL) has been morphologically characterized as a group of lymphoproliferative diseases that include T-cell large granular lymphocytic leukemia (T-LGLL) and chronic lymphoproliferative disorders of natural killer cells (CLPD-NK). We investigated mutations in the Src homology 2 (SH2) domain of the signal transducer and activator of transcription 3 (STAT3) gene in Asian cohorts of T-LGLL and CLPD-NK (n=42 and 11, respectively). Two mutations, Y640F and D661Y, were identified using direct sequencing or allele-specific (AS) PCR. Y640F and D661Y mutations were found in seven and 18 patients, respectively. Two patients were positive for both mutations. Frequencies of STAT3 mutations in T-LGLL and CLPD-NK were 47.6% and 27.2%, respectively. Pure red cell aplasia (PRCA) was associated with the mutations (P=0.005). The mutations were persistently found at stable levels in some patients after more than 5years using AS-quantitative PCR. The results of the present study indicate that the SH2 domain of the STAT3 gene is frequently mutated in Asian T-LGLL and CLPD-NK, and that PRCA is closely correlated with the mutations. SH2 domain of the STAT3 gene is frequently mutated in Asian T cell large granular lymphocyte leukemia and chronic lymphoproliferative disorders of NK cells. Pure red cell aplasia is closely associated with the mutations.
Article
CANCER SCIENCE. 105(3):342-346 (2014)
WILEY-BLACKWELL
2014-03
eng
journal article
VoR
http://hdl.handle.net/10091/17697
https://soar-ir.repo.nii.ac.jp/records/3699
https://pubmed.ncbi.nlm.nih.gov/24350896
24350896
https://doi.org/10.1111/cas.12341
10.1111/cas.12341
1349-7006
AA12100165
CANCER SCIENCE
105
3
342
346
https://soar-ir.repo.nii.ac.jp/record/3699/files/STAT3_gene_mutations_their_association.pdf
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